Linked Data
ClinVar Variation Id:
556899
ClinVar RCV Id:
RCV000672964
dbSNP Id:
rs777251123
ExAC:
1:45966087 T / G
gnomAD v2:
1-45966087-T-G
gnomAD v4:
1-45500415-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45500415T>G , CM000663.2:g.45500415T>G | GRCh38 |
| NC_000001.10:g.45966087T>G , CM000663.1:g.45966087T>G | GRCh37 |
| NC_000001.9:g.45738674T>G | NCBI36 |
| NG_013378.1:g.5232T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401061.9:c.81+2T>G MANE Select | ENSP00000383840.4:n.81+2T>G | |
| ENST00000401061.8:c.81+2T>G | ENSP00000383840.4:n.81+2T>G | |
| ENST00000616135.1:c.-91+2T>G | ENSP00000478859.1:n.-91+2T>G | |
| NM_015506.2:c.81+2T>G | NP_056321.2:n.81+2T>G | |
| XM_005270724.3:c.81+2T>G | XP_005270781.1:n.81+2T>G | |
| XM_011541204.1:c.-142+2T>G | XP_011539506.1:n.-142+2T>G | |
| NM_001330540.1:c.-142+2T>G | NP_001317469.1:n.-142+2T>G | |
| XM_005270724.5:c.81+2T>G | XP_005270781.1:n.81+2T>G | |
| NM_015506.3:c.81+2T>G MANE Select | NP_056321.2:n.81+2T>G | |
| NM_001330540.2:c.-142+2T>G | NP_001317469.1:n.-142+2T>G |